CpG islands (CGIs) are primarily promoter-associated genomic regions and are mostly unmethylated within highly methylated mammalian genomes. The mechanisms by which CGIs are protected from de novo methylation remain elusive. Here we show that insertion of CpG-free DNA into targeted CGIs induces de novo methylation of the entire CGI in human pluripotent stem cells (PSCs). The methylation status is stably maintained even after CpG-free DNA removal, extensive passaging, and differentiation. By targeting the DNA mismatch repair gene MLH1 CGI, we could generate a PSC model of a cancer-related epimutation. Furthermore, we successfully corrected aberrant imprinting in induced PSCs derived from an Angelman syndrome patient. Our results provide insights into how CpG-free DNA induces de novo CGI met...

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Ever Hisko, from Renfrew, Ontario, was only recently diagnosed with Angelman syndrome - which has no cure. Not only does it affect her sleeping, but it also means she is unable to speak. (Source: the Mail online | Health)

Researchers have used stem cells derived from patients with Angelman syndrome to identify the underlying neuronal defects that cause the rare neurogenetic disorder, an important step in the ongoing search for potential treatments for Angelman and a possible cure. (Source: ScienceDaily Headlines)

Biopharmaceutical firm Ovid Therapeutics has commenced the Phase I clinical trial of OV101 for the treatment of adolescents with Angelman syndrome or Fragile X syndrome. (Source: Drug Development Technology)

A new study has helped determine that UBE3A gene loss specifically from GABAergic neurons is what's critical for seizures in Angelman patients. But UBE3A loss from other neuron types may drive other phenotypes associated with the condition. (Source: ScienceDaily Headlines)

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NASHVILLE, Tenn. (Ivanhoe Newswire) -- What would you do if your son was born with a serious disorder and there was no cure? Terry Jo Bichell, Vanderbilt University researcher in Nashville, Tennessee, knew what she had to do: find one. (Source: Medical Headlines From Ivanhoe.com)

Biologists have found a direct link between the biological clock and Angelman syndrome, a neurogenetic disorder that occurs in more than one in every 15,000 live births. The link may provide a valuable way to judge the effectiveness of the first experimental drugs under development for treating the syndrome. (Source: ScienceDaily Headlines)

Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, say researchers. The researchers have come up with a computer program that recognizes facial features in photographs; looks for similarities with facial structures for various conditions, such as Down's syndrome, Angelman syndrome, or Progeria; and returns possible matches ranked by likelihood. (Source: ScienceDaily Headlines)

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(New York University) A team of neuroscientists has identified a protein in laboratory mice linked to impairments similar to those afflicted with Angelman syndrome -- a condition associated with symptoms that include autism, intellectual disability, and motor abnormalities. (Source: EurekAlert! - Social and Behavioral Science)

A new study published in the March issue of Autism Research from the University of Tennessee Health Science Center and Le Bonheur researchers is making the genetic connections between autism and Chromosome 15q Duplication Syndrome (Dup15q). The Memphis researchers determined that the maternally derived or inherited duplication of the region inclusive of the UBE3A gene (also known as the Angelman/Prader-Willi syndrome locus) are sufficient to produce a phenotype on the autism spectrum in all ten maternal duplication subjects... (Source: Health News from Medical News Today)

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Researchers from the research group in growth factors and cell differentiation at IDIBELL and the University of Barcelona (UB) have participated in an international study that has identified the genetic cause of developmental delay observed in Amish individuals in the USA. The research results have been published in the Journal of Medical Genetics. Amish community Amish is a religious community known for a simple and traditional style of life and for its reluctance to adopt modern amenities and technologies... (Source: Health News from Medical News Today)

(IDIBELL-Bellvitge Biomedical Research Institute) Researchers from the research group in growth factors and cell differentiation at IDIBELL and the University of Barcelona have participated in an international study that has identified the genetic cause of developmental delay observed in Amish individuals in the USA. The research results have been published in the Journal of Medical Genetics. (Source: EurekAlert! - Medicine and Health)

The authors investigate a unique inherited neurodevelopmental condition with some phenotypic similarities to Angelman syndrome, shown to be due to a mutation in the HERC2 gene. Journal of Medical Genetics (Source: Medscape Today Headlines)

In the journal PLoS Biology, a team of scientists reports experiments showing how the gene defect of Angelman syndrome disrupts neurological processes that may be needed for memory and learning. In tests in mice, the team showed that a novel compound could restore the healthy processes. In a new study in mice, a scientific collaboration centered at Brown University lays out in unprecedented detail a neurological signaling breakdown in Angelman syndrome, a disorder that affects thousands of children each year, characterized by developmental delay, seizures, and other problems... (Source: Health News from Medical News Today)

(Brown University) In the journal PLOS Biology, a team of scientists reports experiments showing how the gene defect of Angelman syndrome disrupts neurological processes that may be needed for memory and learning. In tests in mice, the team showed that a novel compound could restore the healthy processes. (Source: EurekAlert! - Social and Behavioral Science)

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Rare disease awareness: European-wide information campaigns highlight Rare Diseases every February. And February 15th has been designated the first International Angelman Syndrome Day. (Source: The Irish Times - Health)